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本文报告了性分化异患者22例。利用染色体G显带技术结合临床诊断确定睾丸女性化9例,核型46,XY;先天性肾上腺皮质增生症6例,核型46,XX;无睾症2例,核型46,XY;XX男性1例,核型46,XX;Turner综合征1例,核型45,XO;阴茎阴囊转位1例,核型46,XY;先天性无子宫2例,核型46,XX。本文对上述病例进行了细胞遗传学研究,并对各种性分化异常的原因、诊断及治疗进行了讨论。
This article reports 22 patients with sex differences in differentiation. The use of chromosome G banding technology combined with clinical diagnosis of testicular feminization in 9 cases, karyotype 46, XY; congenital adrenal hyperplasia in 6 cases, karyotype 46, XX; no testosterone in 2 cases, Karyotype 46, XY; XX 1 case of male, karyotype 46, XX; Turner syndrome in 1 case, karyotype 45, XO; penis scrotal transposition in 1 case, karyotype 46, XY; congenital absence of uterus in 2 cases, karyotype 46, XX. In this paper, cytogenetics of the above cases were studied, and the causes of various abnormalities, diagnosis and treatment were discussed.